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https://www.readbyqxmd.com/read/29793178/nrf2-p-glycoprotein-axis-is-associated-with-clinicopathological-characteristics-in-colorectal-cancer
#1
Mohammad Reza Sadeghi, Farhad Jeddi, Narges Soozangar, Mohammad Hossein Somi, Masoud Shirmohamadi, Vahid Khaze, Nasser Samadi
Colorectal cancer (CRC) is the fourth leading cause of cancer-related death worldwide. Activation of ABCB1 gene and its main product, P-glycoprotein, is the common reason for chemoresistance. The nuclear factor-erythroid 2-related factor2 (Nrf2) is directly regulated by Kelch like ECH-associated protein1 (Keap1). In addition, Nrf2 is a key transcriptional factor that regulates efflux transporters, including P-gp. The aim of this study was to investigate the expression levels of Nrf2, Keap1 and ABCB1 in the biopsy samples and their association with clinicopathological features in CRC patients...
May 21, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29792826/fast-evolving-human-specific-neural-enhancers-are-associated-with-aging-related-diseases
#2
Han Chen, Chunyan Li, Zhicheng Zhou, Han Liang
The antagonistic pleiotropy theory hypothesizes that evolutionary adaptations maximizing the fitness in early age increase disease burden after reproduction. This theory remains largely untested at the molecular level. Here, we analyzed enhancer evolution in primates to investigate the relationships between aging-related diseases and enhancers acquired after the human-chimpanzee divergence. We report a 5-fold increased evolutionary rate of enhancers that are activated in neural tissues, leading to fixation of ∼100 human-specific enhancers potentially under adaptation...
May 23, 2018: Cell Systems
https://www.readbyqxmd.com/read/29791912/differential-expression-of-micrornas-in-breast-cancers-from-four-different-ethnicities
#3
Jennifer Pollard, Phil A Burns, Tom A Hughes, Colan Ho-Yen, J Louise Jones, Geetashree Mukherjee, Ganiat O Omoniyi-Esan, Nicholas Akinwale Titloye, Valerie Speirs, Abeer M Shaaban
INTRODUCTION: Breast cancer outcomes vary across different ethnic groups. MicroRNAs (miRs) are small non-coding RNA molecules that regulate gene expression across a range of pathologies, including breast cancer. The aim of this study was to evaluate the presence and expression of miRs in breast cancer samples from different ethnic groups. MATERIALS AND METHODS: Breast cancer tissue from 4 ethnic groups, i.e., British Caucasian, British Black, Nigerian, and Indian, were identified and matched for patients' age, tumour grade/type, and 10 × 10 µm sections taken...
May 23, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29790918/temporal-and-tissue-specific-variability-of-smn-protein-levels-in-mouse-models-of-spinal-muscular-atrophy
#4
Ewout Jn Groen, Elena Perenthaler, Natalie L Courtney, Crispin Y Jordan, Hannah K Shorrock, Dinja van der Hoorn, Yu-Ting Huang, Lyndsay M Murray, Gabriella Viero, Thomas H Gillingwater
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) protein expression. Humans have a second SMN gene (SMN2) that is almost identical to SMN1. However, due to alternative splicing the majority of SMN2 mRNA is translated into a truncated, unstable protein that is quickly degraded. Because the presence of SMN2 provides a unique opportunity for therapy development in SMA patients, the mechanisms that regulate SMN2 splicing and mRNA expression have been elucidated in great detail...
May 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29786794/protocols-for-studies-on-genetically-engineered-mouse-models-in-prostate-cancer
#5
Chris W D Armstrong, Oksana Lyubomska, Melissa J LaBonte, David J J Waugh
Cancer studies have entered an era that is heavily focused on the contribution of the tumor microenvironment. For this reason, in vivo experimentation in an immunodeficient model system is no longer fit for purpose. As a consequence, numerous genetically engineered mouse models (GEMMs) which self-develop tumors have been developed to allow experiments to be performed in a fully immunocompetent setting. One of the most commonly used technologies is Cre-loxP recombination due to its unique ability to control target gene expression in a specified tissue type...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29786143/impact-of-commensal-flora-on-periodontal-immune-response-to-lipopolysaccharide
#6
Daiki Fukuhara, Koichiro Irie, Yoko Uchida, Kota Kataoka, Kentaro Akiyama, Daisuke Ekuni, Takaaki Tomofuji, Manabu Morita
BACKGROUND: Commensal flora are involved in the appropriate development of the mature immune system. However, it is unclear how commensal flora contribute to immune responses against periodontal pathogens, including the response to lipopolysaccharide (LPS). The purpose of this study was to evaluate the expression of immune responses after topical application of LPS in germ-free (GF) and specific-pathogen-free (SPF) mice. METHODS: GF and SPF mice at 8 weeks of age were randomly divided into four groups each: a baseline group (n = 4/group) and three experimental groups (n = 6/group)...
May 22, 2018: Journal of Periodontology
https://www.readbyqxmd.com/read/29785970/phenotypic-and-molecular-characteristics-of-androgen-insensitivity-syndrome-patients
#7
Shi-Min Yuan, Ya-Nan Zhang, Juan Du, Wen Li, Chao-Feng Tu, Lan-Lan Meng, Ge Lin, Guang-Xiu Lu, Yue-Qiu Tan
Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS...
May 18, 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29785740/expression-levels-of-breast-cancer-related-gas5-and-lsinct5-lncrnas-in-cancer-free-breast-tissue-molecular-associations-with-age-at-menarche-and-obesity
#8
Yaser Mansoori, Mohammad Bagher Tabei, Alireza Askari, Pantea Izadi, Abdolreza Daraei, Milad Bastami, Mohammad Mehdi Naghizadeh, Ziba Nariman-Saleh-Fam, Behnam Mansoori, Javad Tavakkoly-Bazzaz
Long noncoding RNAs (lncRNAs) constitute a major class of the human transcriptome which play crucial roles in the key biological processes of both normal and malignant breast cells. Although the aberrant expression of lncRNAs has been well-documented in breast cancer (BC), little is currently known about the association between their expression levels in the breast tissue of healthy women and BC risk factors, especially the reproductive or demographic characteristics that are among the most well-known BC risk modifiers...
May 21, 2018: Breast Journal
https://www.readbyqxmd.com/read/29785566/delineating-a-new-feature-of-constitutional-mismatch-repair-deficiency-cmmrd-syndrome-breast-cancer
#9
Lisa Bush, Melyssa Aronson, Uri Tabori, Brittany B Campbell, Raymond B Bedgood, Kory Jasperson
Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive hereditary cancer condition, characterized by an exceptionally high risk of cancer, a propensity for childhood malignancies, and cutaneous features reminiscent of neurofibromatosis type 1 (NF1). We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps and NF1 associated skin findings, both were subsequently found to have biallelic MSH6 mutations. After years of CMMRD syndrome follow-up, the proband was diagnosed with breast cancer at age 29, while her sister was diagnosed with a glioblastoma at age 27...
May 21, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29784192/differential-gene-expression-in-prostate-tissue-according-to-ejaculation-frequency
#10
Jennifer A Sinnott, Katherine Brumberg, Kathryn M Wilson, Ericka M Ebot, Edward L Giovannucci, Lorelei A Mucci, Jennifer R Rider
In a prospective study of 31 925 men with 18 yr of follow-up, higher ejaculation frequency (EF) throughout adulthood was associated with lower rates of prostate cancer. To further explore this association, we evaluated whole transcriptome gene expression in the prostate tissue from study participants who developed prostate cancer between 1992 and 2004 (n=157 tumor tissue, n=85 adjacent normal). We tested for trends in gene expression according to the level of EF as self-reported in 1992 for ages 20-29 yr, 40-49 yr, and the year prior to the questionnaire, 1991...
May 18, 2018: European Urology
https://www.readbyqxmd.com/read/29783979/lynch-syndrome-associated-endometrial-carcinoma-with-mlh1-germline-mutation-and-mlh1-promoter-hypermethylation-a-case-report-and-literature-review
#11
Takanori Yokoyama, Kazuhiro Takehara, Nao Sugimoto, Keika Kaneko, Etsuko Fujimoto, Mika Okazawa-Sakai, Shinichi Okame, Yuko Shiroyama, Takashi Yokoyama, Norihiro Teramoto, Shozo Ohsumi, Shinya Saito, Kazuho Imai, Kokichi Sugano
BACKGROUND: Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is used to screen for Lynch syndrome in endometrial cancer patients. When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer...
May 21, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29782973/enhanced-retinal-pigment-epithelium-rpe-regeneration-using-curcumin-alginate-hydrogels-in-vitro-evaluation
#12
Jong Ho Park, Eun Yeong Shin, Myeong Eun Shin, Min Joung Choi, Cristiano Carlomagno, Jeong Eun Song, Gilson Khang
The retinal pigment epithelium (RPE) plays a significant role in retaining structural integrity of eye. Factors such as reduction in cell regeneration due to aging and physical injury pose a major hurdle in RPE regeneration. In this study, we exploited the use of alginate (AGT) incorporated with Curcumin (CCI) forming a hydrogel based system CCI/AGT. The fabricated hydrogel could anchor RPE cell in it. In vitro cell analysis revealed that the CCI/AGT hydrogel shows good biocompatibility, enhanced cell growth ability and higher ECM formation compared to the pure AGT hydrogel...
May 18, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29781507/effect-of-estradiol-on-fibroblasts-from-postmenopausal-idiopathic-carpal-tunnel-syndrome-patients
#13
Yoshiaki Yamanaka, Kunitaka Menuki, Takafumi Tajima, Yasuaki Okada, Kenji Kosugi, Yukichi Zenke, Akinori Sakai
Fibrosis of the subsynovial connective tissue (SSCT) is a characteristic finding in patients with idiopathic carpal tunnel syndrome (CTS). Idiopathic CTS frequently occurs in postmenopausal women; therefore, female steroid hormones, especially estrogens, may be involved in its development. In this study, we evaluated the effect of the estradiol on the expression of genes and proteins related to fibrosis of SSCT fibroblasts from patients with idiopathic CTS. This study included 10 postmenopausal women (mean age 76 years)...
May 21, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29780401/molecular-characterization-of-squamosa-promoter-binding-protein-like-spl-gene-family-in-betula-luminifera
#14
Xiu-Yun Li, Er-Pei Lin, Hua-Hong Huang, Ming-Yue Niu, Zai-Kang Tong, Jun-Hong Zhang
As a major family of plant-specific transcription factors, SQUAMOSA PROMOTER BINDING PROTEIN-LIKE ( SPL ) genes play vital regulatory roles in plant growth, development and stress responses. In this study, 18 SPL genes were identified and cloned from Betula luminifera . Two zinc finger-like structures and a nuclear location signal (NLS) segments were existed in the SBP domains of all BlSPLs. Phylogenetic analysis showed that these genes were clustered into nine groups (group I-IX). The intron/exon structure and motif composition were highly conserved within the same group...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29780003/a-disease-associated-aifm1-variant-induces-severe-myopathy-in-knockin-mice
#15
Lena Wischhof, Anna Gioran, Dagmar Sonntag-Bensch, Antonia Piazzesi, Miriam Stork, Pierluigi Nicotera, Daniele Bano
OBJECTIVE: Mutations in the AIFM1 gene have been identified in recessive X-linked mitochondrial diseases. Functional and molecular consequences of these pathogenic AIFM1 mutations have been poorly studied in vivo. METHODS/RESULTS: Here we provide evidence that the disease-associated apoptosis-inducing factor (AIF) deletion arginine 201 (R200 in rodents) causes pathology in knockin mice. Within a few months, posttranslational loss of the mutant AIF protein induces severe myopathy associated with a lower number of cytochrome c oxidase-positive muscle fibers...
May 8, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29779018/common-and-unique-transcriptional-responses-to-dietary-restriction-and-loss-of-insulin-receptor-substrate-1-irs1-in-mice
#16
Melissa M Page, Eugene F Schuster, Manikhandan Mudaliar, Pawel Herzyk, Dominic J Withers, Colin Selman
Dietary restriction (DR) is the most widely studied non-genetic intervention capable of extending lifespan across multiple taxa. Modulation of genes, primarily within the insulin/insulin-like growth factor signalling (IIS) and the mechanistic target of rapamycin (mTOR) signalling pathways also act to extend lifespan in model organisms. For example, mice lacking insulin receptor substrate-1 (IRS1) are long-lived and protected against several age-associated pathologies. However, it remains unclear how these particular interventions act mechanistically to produce their beneficial effects...
May 20, 2018: Aging
https://www.readbyqxmd.com/read/29777899/congenital-dyshormonogenic-hypothyroidism-with-goiter-caused-by-a-sodium-iodide-symporter-slc5a5-mutation-in-a-family-of-shih-tzu-dogs
#17
E A Soler Arias, V A Castillo, J D Garcia, J C Fyfe
An iodide transport defect (ITD) in the thyroid gland was determined to cause congenital dyshormonogenic hypothyroidism with goiter (CDHG) in 2 members of a family of Shih-Tzu dogs. Strikingly, both dogs were also diagnosed with dilated cardiomyopathy at 24 and 1.5 mo of age. The only sign of hypothyroidism was a moderate growth delay in the adult dog. The ITD was recognized by the absence of uptake of technetium-99m in the salivary glands (sg) and goiter observed by scintigraphy. In the same scan, radiopharmaceutical uptake was found in the anterior mediastinum of both dogs and in the right axillary lymph node in the oldest dog...
April 24, 2018: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/29774542/accelerated-pre-senile-systemic-amyloidosis-in-pacap-knockout-mice-a-protective-role-of-pacap-in-age-related-degenerative-processes
#18
Dora Reglodi, Adel Jungling, Rémi Longuespée, Joerg Kriegsmann, Rita Casadonte, Mark Kriegsmann, Tamas Juhasz, Sebastian Bardosi, Andrea Tamas, Balazs Daniel Fulop, Krisztina Kovacs, Zsuzsanna Nagy, Jason Sparks, Attila Miseta, Gabriel Mazzucchelli, Hitoshi Hashimoto, Attila Bardosi
Dysregulation of neuropeptides may play an important role in aging-induced impairments. Among them, pituitary adenylate cyclase activating polypeptide (PACAP) is a potent cytoprotective peptide that provides an endogenous control against a variety of tissue-damaging stimuli. We hypothesized that the progressive decline of PACAP throughout life, and the well-known general cytoprotective effects of PACAP lead to age-related pathophysiological changes in PACAP deficiency, supported by the increased vulnerability to various stressors of animals partially or totally lacking PACAP...
May 17, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29773681/decreased-expression-of-circulating-aire-and-increased-tfh-tfr-cells-in-myasthenia-gravis-patients
#19
Sijia Zhao, Jiaqi Ding, Shengyuan Wang, Chuan Li, Peng Guo, Min Zhang, Zhuyi Li
Myasthenia gravis (MG) is a rare prototypical autoimmune disorder caused by antibodies (Ab) against postsynaptic membrane proteins. Most reports have investigated the role of Autoimmune regulator gene (Aire) in thymic tissue in machianism of MG initiation. So far, the expression of Aire in human peripheral blood cells(we call it circulating Aire expression in the following passage) has not been reported. Herein, we explore the expression of Aire in peripharal blood, circulating T follicular helper (cTfh) and T follicular regulatory (cTfr) cells in MG patients...
May 17, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29773606/optimising-experimental-research-in-respiratory-diseases-an-ers-statement
#20
Philippe Bonniaud, Aurélie Fabre, Nelly Frossard, Christophe Guignabert, Mark Inman, Wolfgang M Kuebler, Tania Maes, Wei Shi, Martin Stampfli, Stefan Uhlig, Eric White, Martin Witzenrath, Pierre-Simon Bellaye, Bruno Crestani, Oliver Eickelberg, Heinz Fehrenbach, Andreas Guenther, Gisli Jenkins, Guy Joos, Antoine Magnan, Bernard Maitre, Ulrich A Maus, Petra Reinhold, Juanita H J Vernooy, Luca Richeldi, Martin Kolb
Experimental models are critical for the understanding of lung health and disease and are indispensable for drug development. However, the pathogenetic and clinical relevance of the models is often unclear. Further, the use of animals in biomedical research is controversial from an ethical perspective.The objective of this task force was to issue a statement with research recommendations about lung disease models by facilitating in-depth discussions between respiratory scientists, and to provide an overview of the literature on the available models...
May 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
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